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Aliases for LAMB2 Gene

Aliases for LAMB2 Gene

  • Laminin, Beta 2 (Laminin S) 2 3
  • LAMS 3 4 6
  • S-Laminin Subunit Beta 3 4
  • Laminin B1s Chain 3 4
  • S-LAM Beta 3 4
  • Laminin S 2 3
  • NPHS5 3 6
  • Laminin-11 Subunit Beta 4
  • Laminin-14 Subunit Beta 4
  • Laminin-15 Subunit Beta 4
  • Laminin Subunit Beta-2 3
  • Laminin-3 Subunit Beta 4
  • Laminin-4 Subunit Beta 4
  • Laminin-7 Subunit Beta 4
  • Laminin-9 Subunit Beta 4

External Ids for LAMB2 Gene

Previous Symbols for LAMB2 Gene

  • LAMS

Summaries for LAMB2 Gene

Entrez Gene Summary for LAMB2 Gene

  • Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the beta chain isoform laminin, beta 2. The beta 2 chain contains the 7 structural domains typical of beta chains of laminin, including the short alpha region. However, unlike beta 1 chain, beta 2 has a more restricted tissue distribution. It is enriched in the basement membrane of muscles at the neuromuscular junctions, kidney glomerulus and vascular smooth muscle. Transgenic mice in which the beta 2 chain gene was inactivated by homologous recombination, showed defects in the maturation of neuromuscular junctions and impairment of glomerular filtration. Alternative splicing involving a non consensus 5' splice site (gc) in the 5' UTR of this gene has been reported. It was suggested that inefficient splicing of this first intron, which does not change the protein sequence, results in a greater abundance of the unspliced form of the transcript than the spliced form. The full-length nature of the spliced transcript is not known. [provided by RefSeq, Aug 2011]

GeneCards Summary for LAMB2 Gene

LAMB2 (Laminin, Beta 2 (Laminin S)) is a Protein Coding gene. Diseases associated with LAMB2 include pierson syndrome and lamb2-related infantile-onset nephrotic syndrome. Among its related pathways are PI3K-Akt signaling pathway and Pathways in cancer. GO annotations related to this gene include structural molecule activity and integrin binding. An important paralog of this gene is LAMC2.

UniProtKB/Swiss-Prot for LAMB2 Gene

  • Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components

Gene Wiki entry for LAMB2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LAMB2 Gene

Genomics for LAMB2 Gene

Genomic Location for LAMB2 Gene

Start:
49,121,114 bp from pter
End:
49,133,166 bp from pter
Size:
12,053 bases
Orientation:
Minus strand

Genomic View for LAMB2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for LAMB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LAMB2 Gene

Regulatory Elements for LAMB2 Gene

Proteins for LAMB2 Gene

  • Protein details for LAMB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P55268-LAMB2_HUMAN
    Recommended name:
    Laminin subunit beta-2
    Protein Accession:
    P55268
    Secondary Accessions:
    • Q16321

    Protein attributes for LAMB2 Gene

    Size:
    1798 amino acids
    Molecular mass:
    195981 Da
    Quaternary structure:
    • Laminin is a complex glycoprotein, consisting of three different polypeptide chains (alpha, beta, gamma), which are bound to each other by disulfide bonds into a cross-shaped molecule comprising one long and three short arms with globules at each end. Beta-2 is a subunit of laminin-3 (laminin-121 or S-laminin), laminin-4 (laminin-221 or S-merosin), laminin-7 (laminin-321 or KS-laminin), laminin-9 (laminin-421), laminin-11 (laminin-521), laminin-14 (laminin-423) and laminin-15 (laminin-523)

neXtProt entry for LAMB2 Gene

Proteomics data for LAMB2 Gene at MOPED

Post-translational modifications for LAMB2 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn248, Asn368, Asn1085, Asn1249, Asn1308, Asn1348, and Asn1499

Other Protein References for LAMB2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for LAMB2 Gene

Domains for LAMB2 Gene

Gene Families for LAMB2 Gene

HGNC:
  • LAM :Laminins

Protein Domains for LAMB2 Gene

UniProtKB/Swiss-Prot:

LAMB2_HUMAN
Domain:
  • The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil structure:
    • P55268
  • Domains VI and IV are globular:
    • P55268
  • Contains 13 laminin EGF-like domains.:
    • P55268
  • Contains 1 laminin IV type B domain.:
    • P55268
  • Contains 1 laminin N-terminal domain.:
    • P55268
genes like me logo Genes that share domains with LAMB2: view

Function for LAMB2 Gene

Molecular function for LAMB2 Gene

GENATLAS Biochemistry: laminin,beta 2 polypeptide,component of basement membrane of skeletal muscle neuromuscular junction,kidney glomerulus,nerve fascicle perineurium,vascular smooth muscle,paralog to LAMB1
UniProtKB/Swiss-Prot Function: Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components

Gene Ontology (GO) - Molecular Function for LAMB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005178 integrin binding IEA --
GO:0005198 structural molecule activity NAS 7698745
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with LAMB2: view
genes like me logo Genes that share phenotypes with LAMB2: view

Animal Models for LAMB2 Gene

MGI Knock Outs for LAMB2:

miRNA for LAMB2 Gene

miRTarBase miRNAs that target LAMB2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for LAMB2 Gene

Localization for LAMB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LAMB2 Gene

Secreted, extracellular space, extracellular matrix, basement membrane. Note=S-laminin is concentrated in the synaptic cleft of the neuromuscular junction.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LAMB2 Gene COMPARTMENTS Subcellular localization image for LAMB2 gene
Compartment Confidence
extracellular 5
cytoskeleton 2
plasma membrane 2
cytosol 1
endoplasmic reticulum 1
lysosome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for LAMB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005604 basement membrane IDA 10964500
GO:0005605 basal lamina TAS 7698745
GO:0005608 laminin-3 complex IPI 10964500
GO:0031012 colocalizes_with extracellular matrix ISS 22261194
genes like me logo Genes that share ontologies with LAMB2: view

Pathways for LAMB2 Gene

genes like me logo Genes that share pathways with LAMB2: view

Gene Ontology (GO) - Biological Process for LAMB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000904 cell morphogenesis involved in differentiation --
GO:0007155 cell adhesion IEA --
GO:0007411 axon guidance IEA --
GO:0007528 neuromuscular junction development IEA --
GO:0007601 visual perception IEA --
genes like me logo Genes that share ontologies with LAMB2: view

Compounds for LAMB2 Gene

(4) Novoseek inferred chemical compound relationships for LAMB2 Gene

Compound -log(P) Hits PubMed IDs
tripeptide 54.4 3
acetylcholine 27.1 2
heparin 8.62 2
calcium 0 1
genes like me logo Genes that share compounds with LAMB2: view

Transcripts for LAMB2 Gene

Unigene Clusters for LAMB2 Gene

Laminin, beta 2 (laminin S):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for LAMB2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17a ·
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10: - - - - - -
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19: - - - - - - - - - - - - - - -
SP20: - - - - - - - - - - - - - - - - - - - -
SP21:

ExUns: 17b ^ 18a · 18b ^ 19a · 19b ^ 20 ^ 21a · 21b ^ 22 ^ 23a · 23b ^ 24a · 24b ^ 25a · 25b ^ 26 ^ 27 ^ 28 ^ 29 ^ 30a · 30b ^ 31a · 31b ^ 32 ^ 33 ^ 34 ^
SP1:
SP2:
SP3:
SP4: -
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14: -
SP15:
SP16:
SP17:
SP18: - - - - -
SP19:
SP20: - - - - - -
SP21: -

ExUns: 35 ^ 36 ^ 37a · 37b · 37c ^ 38 ^ 39 ^ 40a · 40b · 40c ^ 41
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9: - -
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:

Relevant External Links for LAMB2 Gene

GeneLoc Exon Structure for
LAMB2
ECgene alternative splicing isoforms for
LAMB2

Expression for LAMB2 Gene

mRNA expression in normal human tissues for LAMB2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for LAMB2 Gene

SOURCE GeneReport for Unigene cluster for LAMB2 Gene Hs.439726

genes like me logo Genes that share expressions with LAMB2: view

Orthologs for LAMB2 Gene

This gene was present in the common ancestor of animals.

Orthologs for LAMB2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LAMB2 36
  • 97.77 (n)
  • 97.15 (a)
LAMB2 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LAMB2 36
  • 87.53 (n)
  • 89.61 (a)
LAMC1 37
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LAMB2 36
  • 88.99 (n)
  • 91.05 (a)
LAMB2 37
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lamb2 36
  • 85.88 (n)
  • 88.47 (a)
Lamb2 16
Lamb2 37
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LAMB2 37
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LAMB2 37
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lamb2 36
  • 85.11 (n)
  • 88.1 (a)
chicken
(Gallus gallus)
Aves LAMB2 36
  • 66.55 (n)
  • 62.96 (a)
LAMB2 37
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LAMB2 37
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lamb2 36
  • 62.41 (n)
  • 60.78 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10035 36
zebrafish
(Danio rerio)
Actinopterygii lamb2 36
  • 62.38 (n)
  • 60.26 (a)
lamb2 37
  • 60 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001381 36
  • 50.22 (n)
  • 41.51 (a)
fruit fly
(Drosophila melanogaster)
Insecta LanB1 36
  • 49.36 (n)
  • 42.56 (a)
LanB1 37
  • 40 (a)
OneToMany
LanB1 38
  • 39 (a)
worm
(Caenorhabditis elegans)
Secernentea lam-1 36
  • 47.04 (n)
  • 41.46 (a)
lam-1 37
  • 40 (a)
OneToMany
lam-1 38
  • 38 (a)
Species with no ortholog for LAMB2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LAMB2 Gene

ENSEMBL:
Gene Tree for LAMB2 (if available)
TreeFam:
Gene Tree for LAMB2 (if available)

Paralogs for LAMB2 Gene

Paralogs for LAMB2 Gene

Selected SIMAP similar genes for LAMB2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with LAMB2: view

Variants for LAMB2 Gene

Sequence variations from dbSNP and Humsavar for LAMB2 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs1131779 -- 49,132,623(-) GATGT(C/G)CCTGG synonymous-codon, reference
rs1131780 -- 49,132,522(-) TGGCC(C/G)CCAGC reference, missense
rs1131781 -- 49,132,341(-) ACACA(C/G)CCATC missense, reference
rs1131782 -- 49,132,289(-) GCAGC(C/T)TGGTG reference, synonymous-codon
rs1131783 -- 49,132,276(-) AGTCA(C/G)AGAAT missense, reference

Structural Variations from Database of Genomic Variants (DGV) for LAMB2 Gene

Variant ID Type Subtype PubMed ID
nsv876764 CNV Loss 21882294
nsv834686 CNV Loss 17160897
nsv876765 CNV Loss 21882294

Relevant External Links for LAMB2 Gene

HapMap Linkage Disequilibrium report
LAMB2
Human Gene Mutation Database (HGMD)
LAMB2

Disorders for LAMB2 Gene

(2) OMIM Diseases for LAMB2 Gene (150325)

UniProtKB/Swiss-Prot

LAMB2_HUMAN
  • Pierson syndrome (PIERSS) [MIM:609049]: Characterized by nephrotic syndrome with neonatal onset, diffuse mesangial sclerosis and eye abnormalities with microcoria as the leading clinical feature. Death usually occurs within the first weeks of life. Disease severity depends on the mutation type: nontruncating LAMB2 mutations may display variable phenotypes ranging from a milder variant of Pierson syndrome to isolated congenital nephrotic syndrome. {ECO:0000269 PubMed:15367484, ECO:0000269 PubMed:16912710}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Nephrotic syndrome 5 with or without ocular abnormalities (NPHS5) [MIM:614199]: A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. NPHS5 is characterized by very early onset of progressive renal failure. A subset of patients may develop mild ocular anomalies, such as myopia, nystagmus, and strabismus. {ECO:0000269 PubMed:21236492}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for LAMB2 Gene

(6) Novoseek inferred disease relationships for LAMB2 Gene

Disease -log(P) Hits PubMed IDs
walker-warburg syndrome 74.7 3
nephrosis 49.8 2
muscular dystrophies 48.3 2
nephrotic syndrome 33.2 5
metastasis 0 1

Relevant External Links for LAMB2

Genetic Association Database (GAD)
LAMB2
Human Genome Epidemiology (HuGE) Navigator
LAMB2
genes like me logo Genes that share disorders with LAMB2: view

Publications for LAMB2 Gene

  1. Human beta 2 chain of laminin (formerly S chain): cDNA cloning, chromosomal localization, and expression in carcinomas. (PMID: 7698745) Wewer U.M. … Albrechtsen R. (Genomics 1994) 3 4 23
  2. The human laminin beta 2 chain (S-laminin): structure, expression in fetal tissues and chromosomal assignment of the LAMB2 gene. (PMID: 7795887) Iivanainen A. … Tryggvason K. (Matrix Biol. 1995) 3 4 23
  3. Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. (PMID: 16912710) Hasselbacher K. … Hildebrandt F. (Kidney Int. 2006) 3 4 23
  4. Identification of a new autoantibody in patients with chronic hepatitis. (PMID: 15603881) Fukuda Y. … Kato T. (Hum. Immunol. 2004) 3 23
  5. [LAMB2 gene mutation as a cause of congenital nephrotic syndrome with distinct eye abnormalities and hypotonia]. (PMID: 16898484) Zurowska A. … Zenker M. (Prz. Lek. 2006) 3 23

Products for LAMB2 Gene

Sources for LAMB2 Gene

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